Variant report

Variant	rs242423
Chromosome Location	chr14:56606550-56606551
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12894473	1.00[ASW][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap]
rs17091053	1.00[YRI][hapmap]
rs17091199	1.00[ASW][hapmap];0.90[JPT][hapmap]
rs17091214	0.90[JPT][hapmap]
rs4898894	0.82[ASW][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs242423	DAAM1	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56593200-56612800	Weak transcription	Brain Angular Gyrus	brain
2	chr14:56595600-56607000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr14:56596600-56615000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:56597000-56611800	Weak transcription	Lung	lung
5	chr14:56597200-56607200	Enhancers	Dnd41	blood
6	chr14:56598200-56606600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:56599200-56606600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr14:56599400-56614800	Weak transcription	Brain Substantia Nigra	brain
9	chr14:56599400-56615000	Weak transcription	Left Ventricle	heart
10	chr14:56600000-56607800	Enhancers	Primary hematopoietic stem cells	blood
11	chr14:56600400-56606800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:56600600-56608400	Weak transcription	Gastric	stomach
13	chr14:56600600-56615000	Weak transcription	Right Atrium	heart
14	chr14:56601000-56607800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:56603000-56607000	Enhancers	Fetal Brain Male	brain
16	chr14:56603400-56607600	Enhancers	Fetal Brain Female	brain
17	chr14:56603600-56607400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr14:56603800-56607000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr14:56604000-56610400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:56604200-56614800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr14:56604400-56608400	Weak transcription	Stomach Mucosa	stomach
22	chr14:56604400-56610800	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:56604800-56606600	Enhancers	Fetal Kidney	kidney
24	chr14:56604800-56607600	Weak transcription	Psoas Muscle	Psoas
25	chr14:56604800-56612000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:56604800-56612200	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:56605400-56606800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:56605400-56607000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr14:56605600-56606600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr14:56605800-56614200	Weak transcription	Primary T cells from cord blood	blood
31	chr14:56606000-56606800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:56606000-56607400	Weak transcription	Pancreas	Pancrea
33	chr14:56606000-56607600	Weak transcription	Ovary	ovary
34	chr14:56606000-56611800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr14:56606000-56612200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr14:56606000-56612200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr14:56606000-56613000	Weak transcription	Fetal Thymus	thymus
38	chr14:56606000-56614000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:56606000-56614800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr14:56606000-56615000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr14:56606000-56615000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:56606000-56615000	Weak transcription	Spleen	Spleen
43	chr14:56606200-56606600	Weak transcription	Brain Anterior Caudate	brain
44	chr14:56606200-56607800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr14:56606200-56608400	Weak transcription	Thymus	Thymus
46	chr14:56606400-56606600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr14:56606400-56606600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:56606400-56606800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:56606400-56606800	Flanking Active TSS	Brain Germinal Matrix	brain

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